View genomic variant #0000019776
Chromosome |
22 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Probably does not affect function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.29999999C>T |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
NF2_000275 |
MSCV |
MSCV_0019776 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00123 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000246364; RCV000231489; RCV000858790; RCV001010852; | Chromosome | 22:29999999..29999999 | Allele frequencies from ESP | 0.00123 | Allele frequencies from ExAC | 0.00073 | Allele frequencies from TGP | 0.00120 | ClinVar Allele ID | 243689 | Disease database name and identifier | MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007039, MedGen:C0027832, OMIM:101000, Orphanet:637 | ClinVar preferred disease name | Hereditary cancer-predisposing syndrome|not specified|not provided|Neurofibromatosis, type 2 | HGVS variant names | NC 000022.10:g.29999999C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA031926 | Gene symbol:Gene id. | NF2:4771 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 144477078 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001243100; | Chromosome | 22:29999999..30000000 | ClinVar Allele ID | 959058 | Disease database name and identifier | MONDO:MONDO:0007039, MedGen:C0027832, OMIM:101000, Orphanet:637 | ClinVar preferred disease name | Neurofibromatosis, type 2 | HGVS variant names | NC 000022.10:g.29999999 30000000inv | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Inversion | Sequence Ontology for variant type | SO:1000036 | Gene symbol:Gene id. | NF2:4771 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV003297520; | Chromosome | 22:29999999..30000009 | ClinVar Allele ID | 2729545 | Disease database name and identifier | MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162 | ClinVar preferred disease name | Hereditary cancer-predisposing syndrome | HGVS variant names | NC 000022.10:g.29999999 30000009delinsTTCA | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely pathogenic | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Gene symbol:Gene id. | NF2:4771 | Molecular consequence | SO:0001589|frameshift variant, SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
None Ensembl Variant Phenotype Information:
None
|